rs4881084

Homo sapiens
G>A
PFKP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0087 (2614/29956,GnomAD)
A=0103 (3016/29118,TOPMED)
A=0146 (733/5008,1000G)
A=0060 (232/3854,ALSPAC)
A=0055 (203/3708,TWINSUK)
chr10:3108179 (GRCh38.p7) (10p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
162 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.3108179G>A
GRCh37.p13 chr 10NC_000010.10:g.3150371G>A

Gene: PFKP, phosphofructokinase, platelet(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PFKP transcript variant 2NM_001242339.1:c.N/AIntron Variant
PFKP transcript variant 3NM_001323067.1:c.N/AIntron Variant
PFKP transcript variant 4NM_001323068.1:c.N/AIntron Variant
PFKP transcript variant 5NM_001323069.1:c.N/AIntron Variant
PFKP transcript variant 6NM_001323070.1:c.N/AIntron Variant
PFKP transcript variant 7NM_001323071.1:c.N/AIntron Variant
PFKP transcript variant 8NM_001323072.1:c.N/AIntron Variant
PFKP transcript variant 9NM_001323073.1:c.N/AIntron Variant
PFKP transcript variant 10NM_001323074.1:c.N/AIntron Variant
PFKP transcript variant 1NM_002627.4:c.N/AIntron Variant
PFKP transcript variant X1XM_005252465.4:c.N/AIntron Variant
PFKP transcript variant X3XM_005252466.4:c.N/AIntron Variant
PFKP transcript variant X4XM_005252467.2:c.N/AIntron Variant
PFKP transcript variant X2XM_006717449.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.812A=0.188
1000GenomesAmericanSub694G=0.870A=0.130
1000GenomesEast AsianSub1008G=0.903A=0.097
1000GenomesEuropeSub1006G=0.942A=0.058
1000GenomesGlobalStudy-wide5008G=0.854A=0.146
1000GenomesSouth AsianSub978G=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.940A=0.060
The Genome Aggregation DatabaseAfricanSub8714G=0.851A=0.149
The Genome Aggregation DatabaseAmericanSub836G=0.860A=0.140
The Genome Aggregation DatabaseEast AsianSub1616G=0.913A=0.087
The Genome Aggregation DatabaseEuropeSub18488G=0.944A=0.055
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.912A=0.087
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.896A=0.103
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.945A=0.055
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs48810841.43E-05alcohol dependence23089632

eQTL of rs4881084 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4881084 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr1031122203112598E067-37773
chr1031146733114868E067-35503
chr1031148843115490E067-34881
chr1031474573147664E067-2707
chr1031477263147776E067-2595
chr1031492113150249E067-122
chr1031532523153482E0672881
chr1031784193179988E06728048
chr1031121403112190E068-38181
chr1031330733133992E068-16379
chr1031366583138842E068-11529
chr1031465003146565E068-3806
chr1031465803146634E068-3737
chr1031466943147205E068-3166
chr1031472163147309E068-3062
chr1031473113147355E068-3016
chr1031474573147664E068-2707
chr1031477263147776E068-2595
chr1031492113150249E068-122
chr1031503293150511E0680
chr1031505753150661E068204
chr1031507733150988E068402
chr1031532523153482E0682881
chr1031535043153864E0683133
chr1031689353170095E06818564
chr1031784193179988E06828048
chr1031800473180377E06829676
chr1031804003180583E06830029
chr1031826643182778E06832293
chr1031831503183219E06832779
chr1031833223183372E06832951
chr1031834823183537E06833111
chr1031121403112190E069-38181
chr1031148843115490E069-34881
chr1031157083115779E069-34592
chr1031229033123204E069-27167
chr1031325343132939E069-17432
chr1031330733133992E069-16379
chr1031465803146634E069-3737
chr1031466943147205E069-3166
chr1031472163147309E069-3062
chr1031473113147355E069-3016
chr1031474573147664E069-2707
chr1031477263147776E069-2595
chr1031478633147931E069-2440
chr1031479463147996E069-2375
chr1031480803148195E069-2176
chr1031505753150661E069204
chr1031784193179988E06928048
chr1031800473180377E06929676
chr1031121403112190E070-38181
chr1031122203112598E070-37773
chr1031330733133992E070-16379
chr1031449573145577E070-4794
chr1031121403112190E071-38181
chr1031122203112598E071-37773
chr1031449573145577E071-4794
chr1031460853146135E071-4236
chr1031461863146278E071-4093
chr1031465003146565E071-3806
chr1031465803146634E071-3737
chr1031466943147205E071-3166
chr1031472163147309E071-3062
chr1031473113147355E071-3016
chr1031474573147664E071-2707
chr1031477263147776E071-2595
chr1031478633147931E071-2440
chr1031479463147996E071-2375
chr1031480803148195E071-2176
chr1031492113150249E071-122
chr1031503293150511E0710
chr1031505753150661E071204
chr1031507733150988E071402
chr1031512263151283E071855
chr1031513873151739E0711016
chr1031544063154559E0714035
chr1031784193179988E07128048
chr1031800473180377E07129676
chr1031804003180583E07130029
chr1031146733114868E072-35503
chr1031148843115490E072-34881
chr1031157083115779E072-34592
chr1031410853141283E072-9088
chr1031465803146634E072-3737
chr1031466943147205E072-3166
chr1031472163147309E072-3062
chr1031473113147355E072-3016
chr1031474573147664E072-2707
chr1031477263147776E072-2595
chr1031478633147931E072-2440
chr1031479463147996E072-2375
chr1031480803148195E072-2176
chr1031482503148365E072-2006
chr1031492113150249E072-122
chr1031503293150511E0720
chr1031505753150661E072204
chr1031513873151739E0721016
chr1031517543151895E0721383
chr1031784193179988E07228048
chr1031800473180377E07229676
chr1031804003180583E07230029
chr1031826643182778E07232293
chr1031831503183219E07232779
chr1031833223183372E07232951
chr1031148843115490E073-34881
chr1031157083115779E073-34592
chr1031460853146135E073-4236
chr1031461863146278E073-4093
chr1031465003146565E073-3806
chr1031465803146634E073-3737
chr1031466943147205E073-3166
chr1031472163147309E073-3062
chr1031473113147355E073-3016
chr1031474573147664E073-2707
chr1031477263147776E073-2595
chr1031507733150988E073402
chr1031512263151283E073855
chr1031513873151739E0731016
chr1031532523153482E0732881
chr1031535043153864E0733133
chr1031784193179988E07328048
chr1031800473180377E07329676
chr1031818573181922E07331486
chr1031819333182029E07331562
chr1031822463182300E07331875
chr1031825353182589E07332164
chr1031826643182778E07332293
chr1031831503183219E07332779
chr1031833223183372E07332951
chr1031834823183537E07333111
chr1031836043183661E07333233
chr1031836743183962E07333303
chr1031840123184119E07333641
chr1031843183184582E07333947
chr1031460853146135E074-4236
chr1031461863146278E074-4093
chr1031465003146565E074-3806
chr1031465803146634E074-3737
chr1031474573147664E074-2707
chr1031477263147776E074-2595
chr1031478633147931E074-2440
chr1031479463147996E074-2375
chr1031480803148195E074-2176
chr1031503293150511E0740
chr1031505753150661E074204
chr1031507733150988E074402
chr1031784193179988E07428048
chr1031800473180377E07429676
chr1031831503183219E07432779
chr1031833223183372E07432951
chr1031834823183537E07433111
chr1031121403112190E081-38181
chr1031122203112598E081-37773
chr1031126523112751E081-37620
chr1031127523112993E081-37378
chr1031131733113243E081-37128
chr1031449573145577E081-4794
chr1031460853146135E081-4236
chr1031121403112190E082-38181
chr1031122203112598E082-37773
chr1031157083115779E082-34592
chr1031202153120391E082-29980










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1031082063111865E067-38506
chr1031082063111865E068-38506
chr1031082063111865E069-38506
chr1031082063111865E071-38506
chr1031082063111865E072-38506
chr1031082063111865E073-38506
chr1031082063111865E074-38506
chr1031082063111865E082-38506